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Updated: Sep 9, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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MYH2関連性ミオパシーによる新規複合性異卵性変異:症例報告と文献レビュー

Yulai Kang1, Tong Yang2, Xue Chen3

  • 1Department of Internal Medicine, No. 93285 Hospital of PLA, Jilin, China.

Journal of human genetics
|August 31, 2025
PubMed
まとめ

MYH2に関連したミオパシー,珍しい先天性疾患は,四肢の弱さとプトーシスを持つ患者で診断されました. 遺伝子検査により,MYH2遺伝子の新種の複合異性子変異が明らかになり,既知の遺伝的変異を拡大しました.

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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